Autonomic dysfunction in genetic forms of synucleinopathies
V Chelban, E Vichayanrat, L Schottlaende… - Movement …, 2018 - Wiley Online Library
… In patients with SNCA mutations, the sympathetic denervation was most … cardiac sympathetic
denervation was documented in asymptomatic carriers of PARK genes, symptomatic OH in …
denervation was documented in asymptomatic carriers of PARK genes, symptomatic OH in …
Small fiber neuropathy and phosphorylated alpha-synuclein in the skin of E46K-SNCA mutation carriers
…, I Gabilondo, A Murueta-Goyena… - Parkinsonism & Related …, 2019 - Elsevier
… abnormalities and myocardial sympathetic denervation are … severe in the asymptomatic
E46K-SNCA mutation carrier (A02… carriers, regardless of being symptomatic or asymptomatic. …
E46K-SNCA mutation carrier (A02… carriers, regardless of being symptomatic or asymptomatic. …
α‐Synuclein deposition in sympathetic nerve fibers in genetic forms of Parkinson's Disease
R Isonaka, DS Goldstein, W Zhu, E Yoon… - Movement …, 2021 - Wiley Online Library
… failure with sympathetic denervation; and healthy volunteers (HVs). … An asymptomatic
carrier of a SNCA duplication also received … E46K mutation carrier, suggesting that peripheral …
carrier of a SNCA duplication also received … E46K mutation carrier, suggesting that peripheral …
Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models
… E46K mutation [8]. Furthermore, selective cardiac sympathetic denervation was found in
five of six carriers (including one asymptomatic subject) who underwent MIBG scintigraphy [9]. …
five of six carriers (including one asymptomatic subject) who underwent MIBG scintigraphy [9]. …
[HTML][HTML] Skin alpha-synuclein deposit patterns: A predictor of Parkinson's disease subtypes
… the characteristics of cutaneous nerve p-α-syn or α-syn deposits and their … gene mutations.
This review can serve as a reference for the diagnosis and classification of PD based on α-…
This review can serve as a reference for the diagnosis and classification of PD based on α-…
Alpha-synuclein gene and Parkinson's disease
AM Simitsi, C Koros, L Stefanis - … Behavior, and Diet in Parkinson's Disease, 2020 - Elsevier
… cardiac sympathetic denervation was found in symptomatic and asymptomatic carriers (… An
in vitro study using primary neuron cultures suggested the pathological E46K SNCA mutation …
in vitro study using primary neuron cultures suggested the pathological E46K SNCA mutation …
[HTML][HTML] Brain-first versus gut-first Parkinson's disease: a hypothesis
P Borghammer… - Journal of Parkinson's …, 2019 - content.iospress.com
… The PNS-first (RBD-positive) patients initially show cardiac sympathetic denervation …
symptomatic carriers (n = 4) and 2 of 3 asymptomatic carriers of the E46K PARK-1 mutation had …
symptomatic carriers (n = 4) and 2 of 3 asymptomatic carriers of the E46K PARK-1 mutation had …
Myocardial MIBG scintigraphy in genetic Parkinson's disease as a model for Lewy body disorders
…, M Acera, B Tijero, A Murueta-Goyena… - European Journal of …, 2019 - Springer
… myocardial sympathetic denervation as measured by MIBG scintigraphy in patients with a
wide spectrum of genetic … , PARK1 symptomatic carriers of E46K mutation in the SNCA gene; …
wide spectrum of genetic … , PARK1 symptomatic carriers of E46K mutation in the SNCA gene; …
[HTML][HTML] Anionic lipid vesicles have differential effects on the aggregation of early onset-associated α-synuclein missense mutants
KJC Watt, RM Meade, RJ Williams… - Journal of Biological …, 2022 - ASBMB
… , E46K, H50Q, G51D, and A53T missense mutants in the presence of lipid vesicles. These
findings have important implications regarding the interplay between the lipids required for αS …
findings have important implications regarding the interplay between the lipids required for αS …
α-Synuclein and parkinsonism: updates and future perspectives
… Postural instability and gait disturbance were less frequent in patients with E46K mutation
or … with E46K mutation or SNCA triplication, as well as those with H50Q or A53T mutations. …
or … with E46K mutation or SNCA triplication, as well as those with H50Q or A53T mutations. …